title: Biomarkers in autism spectrum disorder: the old and the new.
abstract: BACKGROUND
  Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder with onset during early childhood and typically a life-long course. The majority of ASD cases stems from complex, 'multiple-hit', oligogenic/polygenic underpinnings involving several loci and possibly gene-environment interactions. These multiple layers of complexity spur interest into the identification of biomarkers able to define biologically homogeneous subgroups, predict autism risk prior to the onset of behavioural abnormalities, aid early diagnoses, predict the developmental trajectory of ASD children, predict response to treatment and identify children at risk for severe adverse reactions to psychoactive drugs.
  
  
  OBJECTIVE
  The present paper reviews (a) similarities and differences between the concepts of 'biomarker' and 'endophenotype', (b) established biomarkers and endophenotypes in autism research (biochemical, morphological, hormonal, immunological, neurophysiological and neuroanatomical, neuropsychological, behavioural), (c) -omics approaches towards the discovery of novel biomarker panels for ASD, (d) bioresource infrastructures and (e) data management for biomarker research in autism.
  
  
  RESULTS
  Known biomarkers, such as abnormal blood levels of serotonin, oxytocin, melatonin, immune cytokines and lymphocyte subtypes, multiple neuropsychological, electrophysiological and brain imaging parameters, will eventually merge with novel biomarkers identified using unbiased genomic, epigenomic, transcriptomic, proteomic and metabolomic methods, to generate multimarker panels. Bioresource infrastructures, data management and data analysis using artificial intelligence networks will be instrumental in supporting efforts to identify these biomarker panels.
  
  
  CONCLUSIONS
  Biomarker research has great heuristic potential in targeting autism diagnosis and treatment.
authors.affiliation: MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, London, SE5 8AF, UK.
authors.forename: Barbara
authors.initials: B
authors.lastname: Ruggeri
authors.forename: Ugis
authors.initials: U
authors.lastname: Sarkans
authors.forename: Gunter
authors.initials: G
authors.lastname: Schumann
authors.forename: Antonio M
authors.initials: AM
authors.lastname: Persico
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D058068:Endophenotypes / Q000378:metabolism; D006801:Humans; D016247:Information Storage and Retrieval; D057285:Precision Medicine; D011600:Psychopharmacology / Q000379:methods
chemical_list: D015415:Biomarkers